Canonical Allele Identifier: CA347231322
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs387907200
gnomAD v2: 2-73114865-G-A
gnomAD v4: 2-72887736-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72887736G>A , CM000664.2:g.72887736G>A GRCh38
NC_000002.11:g.73114865G>A , CM000664.1:g.73114865G>A GRCh37
NC_000002.10:g.72968373G>A NCBI36
NG_008234.1:g.5354G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234454.6:c.304G>A MANE Select ENSP00000234454.5:p.Gly102Ser
ENST00000234454.5:c.304G>A ENSP00000234454.5:p.Gly102Ser
ENST00000498749.1:n.355G>A
NM_003124.4:c.304G>A NP_003115.1:p.Gly102Ser
NM_003124.5:c.304G>A MANE Select NP_003115.1:p.Gly102Ser